We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon"...

background adaptation is an important process for humans. children, who are physically or mentally disabled, impose special stresses on their families, parents and in particular on their mothers. objectives this study examines the relationship between the characteristics of mothers who have educable mentally retarded children, and their adaptation based on roy’s adaptation model. patients and m...

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoid philtrum, postnatal growth retardation, and mild to moderate mental retardatio...

spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...

osting by E Abstract Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, hig...

Objectives: This study determines the prevalence of mental retardation among school going children in Mangalore by sex, age, religion, and location. Distribution of severity of mental retardation and its relationship with age of diagnosis is reported. Materials and methods: The prevalence was obtained from the Inclusive Education Resource Centre reports of 2011. Sex, age, religion and living ar...

We started on our career as parents exactly as thousands do every year; a little apprehensive , tremendously happy, unaccountably proud and more than a little at a loss. But whereas in the usual case the child manages to survive the first fumbling, weeks, thrives and learns and becomes wholly a joy, our little son did not thrive or learn, and remained for nine months a worry, as well as a joy. ...